Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21868476A>T , CM000685.2:g.21868476A>T | GRCh38 |
| NC_000023.10:g.21886594A>T , CM000685.1:g.21886594A>T | GRCh37 |
| NC_000023.9:g.21796515A>T | NCBI36 |
| NG_012797.1:g.33939A>T | |
| NG_012797.2:g.33939A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015884.4:c.680A>T MANE Select | NP_056968.1:p.His227Leu |
| ENST00000379484.10:c.680A>T MANE Select | ENSP00000368798.5:p.His227Leu |
| NM_015884.3:c.680A>T | NP_056968.1:p.His227Leu |
| ENST00000365779.2:c.680A>T | ENSP00000368796.1:p.His227Leu |
| ENST00000379484.9:c.680A>T | ENSP00000368798.5:p.His227Leu |